PMID: 33339817

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature communications
Nielsen, Jonas B JB, Rom, Oren O, Surakka, Ida I, Graham, Sarah E SE, Zhou, Wei W, Roychowdhury, Tanmoy T, Fritsche, Lars G LG, Gagliano Taliun, Sarah A SA, Sidore, Carlo C, Liu, Yuhao Y, Gabrielsen, Maiken E ME, Skogholt, Anne Heidi AH, Wolford, Brooke B, Overton, William W, Zhao, Ying Y, Chen, Jin J, Zhang, He H, Hornsby, Whitney E WE, Acheampong, Akua A, Grooms, Austen A, Schaefer, Amanda A, Zajac, Gregory J M GJM, Villacorta, Luis L, Zhang, Jifeng J, Brumpton, Ben B, Løset, Mari M, Rai, Vivek V, Lundegaard, Pia R PR, Olesen, Morten S MS, Taylor, Kent D KD, Palmer, Nicholette D ND, Chen, Yii-Der YD, Choi, Seung H SH, Lubitz, Steven A SA, Ellinor, Patrick T PT, Barnes, Kathleen C KC, Daya, Michelle M, Rafaels, Nicholas N, Weiss, Scott T ST, Lasky-Su, Jessica J, Tracy, Russell P RP, Vasan, Ramachandran S RS, Cupples, L Adrienne LA, Mathias, Rasika A RA, Yanek, Lisa R LR, Becker, Lewis C LC, Peyser, Patricia A PA, Bielak, Lawrence F LF, Smith, Jennifer A JA, Aslibekyan, Stella S, Hidalgo, Bertha A BA, Arnett, Donna K DK, Irvin, Marguerite R MR, Wilson, James G JG, Musani, Solomon K SK, Correa, Adolfo A, Rich, Stephen S SS, Guo, Xiuqing X, Rotter, Jerome I JI, Konkle, Barbara A BA, Johnsen, Jill M JM, Ashley-Koch, Allison E AE, Telen, Marilyn J MJ, Sheehan, Vivien A VA, Blangero, John J, Curran, Joanne E JE, Peralta, Juan M JM, Montgomery, Courtney C, Sheu, Wayne H-H WH, Chung, Ren-Hua RH, Schwander, Karen K, Nouraie, Seyed M SM, Gordeuk, Victor R VR, Zhang, Yingze Y, Kooperberg, Charles C, Reiner, Alexander P AP, Jackson, Rebecca D RD, Bleecker, Eugene R ER, Meyers, Deborah A DA, Li, Xingnan X, Das, Sayantan S, Yu, Ketian K, LeFaive, Jonathon J, Smith, Albert A, Blackwell, Tom T, Taliun, Daniel D, Zollner, Sebastian S, Forer, Lukas L, Schoenherr, Sebastian S, Fuchsberger, Christian C, Pandit, Anita A, Zawistowski, Matthew M, Kheterpal, Sachin S, Brummett, Chad M CM, Natarajan, Pradeep P, Schlessinger, David D, Lee, Seunggeun S, Kang, Hyun Min HM, Cucca, Francesco F, Holmen, Oddgeir L OL, Åsvold, Bjørn O BO, Boehnke, Michael M, Kathiresan, Sekar S, Abecasis, Goncalo R GR, Chen, Y Eugene YE, Willer, Cristen J CJ, Hveem, Kristian K
2020-12-18

356 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-159682233-C-T CRP c.*1082G>A - 3-UTRSNV 2/2 -
19-11205975-G-A LDLR c.68-4924G>A - IntronicSNV - 1/17
19-11205975-G-C LDLR c.68-4924G>C - IntronicSNV - 1/17
18-60054857-A-C TNFRSF11A c.*2590A>C - 3-UTRSNV 10/10 -
18-60054857-A-T TNFRSF11A c.*2590A>T - 3-UTRSNV 10/10 -
1-154381103-A-G IL6R c.85+2913A>G - IntronicSNV - 1/9
12-121423956-C-T HNF1A c.327-2680C>T - IntronicSNV - 1/9
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
10-65133822-A-G JMJD1C c.333+6256T>C - IntronicSNV - 2/25
2-169870295-C-A ABCB11 c.151-275G>T - IntronicSNV - 4/27
2-169870295-C-T ABCB11 c.151-275G>A - IntronicSNV - 4/27
7-116437606-G-A MET c.*1428G>A - 3-UTRSNV 21/21 -
7-116437606-G-C MET c.*1428G>C - 3-UTRSNV 21/21 -
11-5701074-C-A TRIM5 c.334G>T p.V112F Missense 2/8 -
1-159683438-C-A CRP c.552G>T p.L184= Synonymous 2/2 -
1-159683438-C-G CRP c.552G>C p.L184= Synonymous 2/2 -
1-159683438-C-T CRP c.552G>A p.L184= Synonymous 2/2 -
9-107589255-C-T ABCA1 c.2311G>A p.V771M Missense 16/50 -
8-19819724-C-G LPL c.1421C>A p.S474* Nonsense 9/10 -
17-26694861-G-A VTN c.1199C>T p.T400M Missense 7/8 -
16-57007353-C-T CETP c.861C>T p.F287= Synonymous 9/16 -
12-121416650-A-C HNF1A c.79A>C p.I27L Missense 1/10 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
1-21890632-G-A ALPL c.571G>A p.E191K Missense 6/12 -
19-8429323-G-A ANGPTL4 c.118G>A p.E40K Missense 1/7 -
6-160543148-C-T SLC22A1 c.181C>T p.R61C Missense 1/11 -
8-19813529-A-G LPL c.953A>G p.N318S Missense 6/10 -
1-66102257-G-A LEPR c.3057G>A p.P1019= Synonymous 20/20 -
2-21225281-C-T APOB c.13013G>A p.S4338N Missense 29/29 -
2-21233972-T-C APOB c.5768A>G p.H1923R Missense 26/29 -
16-81534790-T-C CMIP c.300+55644T>C - IntronicSNV - 1/20
16-81534790-T-A CMIP c.300+55644T>A - IntronicSNV - 1/20
1-154414086-A-G IL6R c.949+5500A>G - IntronicSNV - 6/9
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
12-121420807-G-A HNF1A c.326+3910G>A - IntronicSNV - 1/9
6-161013013-T-C LPA c.3630-880A>G - IntronicSNV - 22/38
6-127440047-T-C RSPO3 c.1-291T>C - IntergenicSNV 1/5 -
19-19396616-C-T SUGP1 c.1244-5516G>A - IntronicSNV - 8/13
9-107661742-A-C ABCA1 c.66+4153T>G - IntronicSNV - 2/49
1-155106697-G-A EFNA1 c.*154G>A - 3-UTRSNV 5/5 -
1-40035928-G-T PABPC4 c.504-254C>A - IntronicSNV - 3/15
18-47109955-A-G LIPG c.1187A>G p.N396S Missense 8/10 -
19-49206417-A-G FUT2 c.204A>G p.A68= Synonymous 2/2 -
2-211540507-C-A CPS1 c.4217C>A p.T1406N Missense 36/38 -
17-41926126-C-T CD300LG c.244C>T p.R82C Missense 2/7 -
19-11350488-C-T ANGPTL8 c.175C>T p.R59W Missense 1/4 -
9-107665978-C-A ABCA1 c.1-18G>T - 5-UTRSNV 2/50 -
11-5248004-G-A HBB c.118C>T p.Q40* Nonsense 2/3 -
19-11216243-G-A LDLR c.661G>A p.D221N Missense 4/18 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
19-11216243-G-T LDLR c.661G>T p.D221Y Missense 4/18 -
9-107665978-C-G ABCA1 c.1-18G>C - 5-UTRSNV 2/50 -
9-107665978-C-T ABCA1 c.1-18G>A - 5-UTRSNV 2/50 -
1-23398065-C-T KDM1A c.1548+213C>T - IntronicSNV - 13/20
11-61543499-T-C MYRF c.1312-29T>C - IntronicSNV - 8/26
7-6461310-C-T DAGLB c.1218+48G>A - IntronicSNV - 9/14
1-21904206-C-A ALPL c.*65C>A - 3-UTRSNV 12/12 -
1-21904206-C-G ALPL c.*65C>G - 3-UTRSNV 12/12 -
1-21904206-C-T ALPL c.*65C>T - 3-UTRSNV 12/12 -
11-61582708-T-C FADS1 c.375+1319A>G - IntronicSNV - 1/11
10-113931690-C-T GPAM c.794+250G>A - IntronicSNV - 9/21
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
12-53295081-T-G KRT8 c.534-78A>C - IntronicSNV - 2/7
7-72907459-C-T BAZ1B c.572-208G>A - IntronicSNV - 4/19
2-27598097-T-C SNX17 c.774+77T>C - IntronicSNV - 9/14
1-21930542-C-G RAP1GAP c.1429-1136G>C - IntronicSNV - 18/24
20-44569930-C-T PCIF1 c.673+84C>T - IntronicSNV - 7/16
1-21930542-C-T RAP1GAP c.1429-1136G>A - IntronicSNV - 18/24
17-38066509-G-A GSDMB c.408-332C>T - IntronicSNV - 3/10
9-107665739-G-A ABCA1 c.66+156C>T - IntronicSNV - 2/49
10-113913552-A-T GPAM c.2371-128T>A - IntronicSNV - 21/21
4-3446883-A-G HGFAC c.1017-109A>G - IntronicSNV - 8/13
4-3443931-A-G HGFAC c.117+86A>G - IntronicSNV - 1/13
17-67082962-C-G ABCA6 c.3820-86G>C - IntronicSNV - 29/38
7-87079602-G-C ABCB4 c.709-194C>G - IntronicSNV - 7/27
16-57006829-T-A CETP c.751-414T>A - IntronicSNV - 8/15
19-11216617-G-A LDLR c.694+341G>A - IntronicSNV - 4/17
19-11216617-G-C LDLR c.694+341G>C - IntronicSNV - 4/17
19-11216617-G-T LDLR c.694+341G>T - IntronicSNV - 4/17
1-55590465-C-T USP24 c.3961-164G>A - IntronicSNV - 34/67
16-57010486-C-T CETP c.981+1423C>T - IntronicSNV - 10/15
16-57012887-G-A CETP c.1146+720G>A - IntronicSNV - 11/15
16-57006829-T-G CETP c.751-414T>G - IntronicSNV - 8/15
6-160997118-A-G LPA c.4631+1050T>C - IntronicSNV - 28/38
6-160997118-A-T LPA c.4631+1050T>A - IntronicSNV - 28/38
6-161008646-G-A LPA c.3948-984C>T - IntronicSNV - 24/38
6-161055671-A-G LPA c.1075+484T>C - IntronicSNV - 7/38
17-7080316-C-T ASGR1 c.267G>A p.K89= Synonymous 4/9 -
8-145639726-T-C SLC39A4 c.1069A>G p.T357A Missense 6/12 -
7-73020337-C-G MLXIPL c.723G>C p.Q241H Missense 6/17 -
14-103576444-C-G EXOC3L4 c.2053C>G p.Q685E Missense 11/11 -
8-145732180-G-C GPT c.1354G>C p.V452L Missense 10/11 -
19-54675643-G-A TMC4 c.289C>T p.H97Y Missense 2/15 -
2-21266774-GGCAGCGCCA-G APOB c.35_43delTGGCGCTGC p.L12_L14del InFrameDeletion 1/29 -
4-100052733-C-A ADH4 c.765G>T p.P255= Synonymous 6/9 -
19-19380513-A-G TM6SF2 c.467T>C p.L156P Missense 5/10 -
6-24476431-T-C GPLD1 c.308A>G p.N103S Missense 4/25 -
2-21236251-G-A APOB c.3997C>T p.R1333* Nonsense 25/29 -
6-31935567-G-A SKIV2L c.2659G>A p.D887N Missense 22/28 -
2-21230480-C-T APOB c.9260G>A p.W3087* Nonsense 26/29 -
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
22-44324730-C-T PNPLA3 c.447C>T p.P149= Synonymous 3/9 -
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
12-121419056-T-C HNF1A c.326+2159T>C - IntronicSNV - 1/9
11-47246397-G-A DDB2 c.456+7797G>A - IntronicSNV - 3/9
11-47246397-G-C DDB2 c.456+7797G>C - IntronicSNV - 3/9
11-47246397-G-T DDB2 c.456+7797G>T - IntronicSNV - 3/9
8-19806631-T-C LPL c.249+780T>C - IntronicSNV - 2/9
1-21786068-C-T NBPF3 c.134-9113C>T - IntronicSNV - 2/14
1-55519174-G-A PCSK9 c.799+710G>A - IntronicSNV - 5/11
1-55519174-G-C PCSK9 c.799+710G>C - IntronicSNV - 5/11
11-61603510-C-A FADS2 c.208-1740C>A - IntronicSNV - 1/11
11-61603510-C-T FADS2 c.208-1740C>T - IntronicSNV - 1/11
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
9-107647019-C-T ABCA1 c.161-170G>A - IntronicSNV - 3/49
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/19 -
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/19 -
1-62903547-C-T USP1 c.-70+476C>T - intron_variant - 1/8
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
19-19336608-C-T NCAN c.1072+529C>T - IntronicSNV - 6/14
1-110470764-G-A CSF1 c.*14-710G>A - intron_variant - 8/8
19-54677189-C-T MBOAT7 c.*549G>A - 3-UTRSNV 8/8 -
19-11231203-G-A LDLR c.2140+5G>A - IntronicSNV - 14/17
11-63877163-C-T FLRT1 c.-50+5510C>T - intron_variant - 2/2
11-61567753-C-A FADS1 c.*2130G>T - 3-UTRSNV 12/12 -
12-125325010-C-G SCARB1 c.127-22757G>C - IntronicSNV - 1/12
5-52193125-A-G ITGA1 c.1091-161A>G - IntronicSNV - 9/28
1-21889760-G-A ALPL c.455G>A p.R152H Missense 5/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
9-107556776-T-G ABCA1 c.5398A>C p.N1800H Missense 40/50 -
1-21890636-T-C ALPL c.575T>C p.M192T Missense 6/12 -
1-21889741-G-A ALPL c.436G>A p.E146K Missense 5/12 -
1-159683814-G-A CRP c.176C>T p.T59M Missense 2/2 -
18-47109955-A-C LIPG c.1187A>C p.N396T Missense 8/10 -
2-44075483-T-C ABCG8 c.322+2033T>C - IntronicSNV - 3/12
17-67081278-A-G ABCA6 c.4075T>C p.C1359R Missense 32/39 -
11-126242372-C-T ST3GAL4 c.-61+16635C>T - intron_variant - 1/10
12-111718231-C-A CUX2 c.302-10991C>A - IntronicSNV - 4/21
12-111718231-C-T CUX2 c.302-10991C>T - IntronicSNV - 4/21
19-45448465-T-G APOC4 c.287T>G p.L96R Missense 3/3 -
19-11346550-C-A DOCK6 c.2393-115G>T - IntronicSNV - 20/47
19-11346550-C-G DOCK6 c.2393-115G>C - IntronicSNV - 20/47
19-11346550-C-T DOCK6 c.2393-115G>A - IntronicSNV - 20/47
1-27284913-C-A KDF1 c.-33+1928G>T - intron_variant - 1/3
1-27284913-C-T KDF1 c.-33+1928G>A - intron_variant - 1/3
9-131466489-G-T PKN3 c.25-1093G>T - IntronicSNV - 1/21
8-19819724-C-A LPL c.1421C>A p.S474* Nonsense 9/10 -
16-72144174-T-C DHX38 c.3478-681T>C - IntronicSNV - 25/26
16-72144174-T-G DHX38 c.3478-681T>G - IntronicSNV - 25/26
10-101912194-C-T ERLIN1 c.826-85G>A - IntronicSNV - 10/10
1-21890632-G-C ALPL c.571G>C p.E191Q Missense 6/12 -
1-230297136-C-T GALNT2 c.127-16828C>T - IntronicSNV - 1/15
15-60878030-G-A RORA c.197-53980C>T - IntronicSNV - 2/10
22-44340904-C-G PNPLA3 c.1217+229C>G - IntronicSNV - 8/8
22-44340904-C-T PNPLA3 c.1217+229C>T - IntronicSNV - 8/8
11-61596633-C-T FADS2 c.207+564C>T - IntronicSNV - 1/11
10-101924418-T-C ERLIN1 c.564-566A>G - IntronicSNV - 7/10
7-6461310-C-G DAGLB c.1218+48G>C - IntronicSNV - 9/14
7-127014438-T-C ZNF800 c.952A>G p.I318V Missense 5/6 -
6-24463020-G-C GPLD1 c.825C>G p.D275E Missense 11/25 -
14-73011885-A-G RGS6 c.1422+5083A>G - IntronicSNV - 17/17
15-58855748-C-T LIPC c.1214C>T p.T405M Missense 8/9 -
16-53798622-G-T FTO c.46-45430G>T - IntronicSNV - 1/8
4-3443931-A-T HGFAC c.117+86A>T - IntronicSNV - 1/13
17-36073320-C-A HNF1B c.1046-2649G>T - IntronicSNV - 4/8
17-36073320-C-T HNF1B c.1046-2649G>A - IntronicSNV - 4/8
2-169853178-A-C ABCB11 c.444T>G p.I148M Missense 6/28 -
11-118488782-A-C PHLDB1 c.355+1856A>C - IntronicSNV - 4/22
4-77416627-A-G SHROOM3 c.168+59254A>G - IntronicSNV - 1/10
4-77416627-A-T SHROOM3 c.168+59254A>T - IntronicSNV - 1/10
13-95256305-T-C GPR180 c.146-1340T>C - IntronicSNV - 1/8
13-95256305-T-G GPR180 c.146-1340T>G - IntronicSNV - 1/8
8-71108548-T-A NCOA2 c.259+17590A>T - IntronicSNV - 4/22
8-71108548-T-C NCOA2 c.259+17590A>G - IntronicSNV - 4/22
12-570840-G-A B4GALNT3 c.169+1129G>A - IntronicSNV - 1/19
12-570840-G-C B4GALNT3 c.169+1129G>C - IntronicSNV - 1/19
3-149212268-G-A TM4SF4 c.402-4241G>A - IntronicSNV - 3/4
7-106914944-T-C COG5 c.1575+6801A>G - intron_variant - 14/21
11-8826071-G-A ST5 c.-26+5993C>T - intron_variant - 1/19
3-170729414-G-A SLC2A2 c.372-1543C>T - IntronicSNV - 3/10
19-47435471-G-A ARHGAP35 c.3682-5050G>A - IntronicSNV - 2/6
3-149212076-A-G TM4SF4 c.402-4433A>G - IntronicSNV - 3/4
5-156743083-G-A CYFIP2 c.1356+981G>A - IntronicSNV - 13/30
5-156743083-G-C CYFIP2 c.1356+981G>C - IntronicSNV - 13/30
7-97826232-G-A LMTK2 c.4107+2348G>A - IntronicSNV - 11/13
1-154418415-T-C IL6R c.950-2186T>C - IntronicSNV - 6/9
10-101132282-A-C CNNM1 c.2177-4530A>C - IntronicSNV - 6/10
2-169834370-G-A ABCB11 c.1198-1173C>T - IntronicSNV - 11/27
22-18450609-G-A MICAL3 c.-75+56438C>T - intron_variant - 1/31
2-192121467-G-A MYO1B c.-10+11115G>A - intron_variant - 1/30
10-52642516-G-A A1CF c.-94+2825C>T - intron_variant - 1/12
10-52642516-G-T A1CF c.-94+2825C>A - intron_variant - 1/12
15-73982336-C-T CD276 c.-55+5535C>T - intron_variant - 1/9
10-74692646-T-C OIT3 c.*364T>C - 3-UTRSNV 9/9 -
X-14893175-G-A MOSPD2 c.79+1295G>A - IntronicSNV - 2/14
3-32568632-G-A DYNC1LI1 c.1463-232C>T - IntronicSNV - 12/12
10-94783777-C-G EXOC6 c.2169+9753C>G - IntronicSNV - 20/21
17-76387363-G-T PGS1 c.144-1194G>T - IntronicSNV - 1/9
2-158481992-A-G ACVR1C c.73+3092T>C - IntronicSNV - 1/8
16-76458533-G-A CNTNAP4 c.388-2816G>A - intron_variant - 4/24
2-24569241-T-C ITSN2 c.-34+13932A>G - intron_variant - 1/39
8-116658583-G-T TRPS1 c.-122+22189C>A - intron_variant - 1/6
3-12374332-C-G PPARG c.-9+20380C>G - intron_variant - 2/7
16-72097827-C-A HPR c.5+668C>A - IntronicSNV - 1/4
16-72097827-C-T HPR c.5+668C>T - IntronicSNV - 1/4
19-50000009-G-A RPS11 c.15+281G>A - IntronicSNV - 1/4
17-45737275-A-T KPNB1 c.637-1210A>T - IntronicSNV - 5/21
11-18653712-A-G SPTY2D1 c.60+2033T>C - IntronicSNV - 1/5
10-74665524-G-T OIT3 c.545-830G>T - IntronicSNV - 3/8
12-125338529-C-T SCARB1 c.126+9612G>A - IntronicSNV - 1/12
16-88551082-A-G ZFPM1 c.41-1265A>G - IntronicSNV - 1/9
12-623425-G-A B4GALNT3 c.170-20907G>A - IntronicSNV - 1/19
12-623425-G-C B4GALNT3 c.170-20907G>C - IntronicSNV - 1/19
11-126227723-G-T ST3GAL4 c.-61+1986G>T - intron_variant - 1/10
6-24432550-G-A GPLD1 c.2436+865C>T - IntronicSNV - 24/24
10-18196764-T-C MRC1 c.4078+137T>C - IntronicSNV - 28/29
1-21934326-A-C RAP1GAP c.1296+380T>G - IntronicSNV - 17/24
1-21894465-C-T ALPL c.649-132C>T - IntronicSNV - 6/11
16-57010519-G-T CETP c.981+1456G>T - IntronicSNV - 10/15
1-21866564-G-A ALPL c.1-14011G>A - IntronicSNV - 1/11
8-145625366-C-G CPSF1 c.1031+16G>C - IntronicSNV - 10/37
8-145625366-C-T CPSF1 c.1031+16G>A - IntronicSNV - 10/37
1-21899052-C-G ALPL c.863-1106C>G - IntronicSNV - 8/11
1-21899052-C-T ALPL c.863-1106C>T - IntronicSNV - 8/11
16-67732186-C-T GFOD2 c.1-12568G>A - IntronicSNV - 1/2
9-107669241-T-C ABCA1 c.1-3281A>G - IntronicSNV - 1/49
8-126445055-G-A TRIB1 c.361-504G>A - IntronicSNV - 1/2
19-11168029-T-C SMARCA4 c.4425-902T>C - IntronicSNV - 30/34
19-7919179-A-G EVI5L c.1146+960A>G - IntronicSNV - 10/19
4-69338311-A-G TMPRSS11E c.490+970A>G - IntronicSNV - 5/9
2-118846970-T-G INSIG2 c.-139+853T>G - intron_variant - 1/5
13-27183305-A-C WASF3 c.-108-3793A>C - intron_variant - 1/9
7-44242340-T-C YKT6 c.104+1502T>C - IntronicSNV - 1/6
1-27180088-A-C ZDHHC18 c.1050-129A>C - IntronicSNV - 7/7
8-116601022-T-C TRPS1 c.2097-1191A>G - IntronicSNV - 4/6
3-136103267-C-G STAG1 c.2278-6673G>C - IntronicSNV - 22/33
3-136103267-C-T STAG1 c.2278-6673G>A - IntronicSNV - 22/33
4-170473103-G-A NEK1 c.1562+3768C>T - IntronicSNV - 18/35
1-40033905-G-A PABPC4 c.877-387C>T - IntronicSNV - 6/15
12-133435548-A-G CHFR c.911+106T>C - IntronicSNV - 8/17
1-200871809-C-T C1orf106 c.520+1522C>T - IntronicSNV - 5/9
19-58647516-T-G ZNF329 c.-9+6408A>C - intron_variant - 3/3
11-126250680-G-A ST3GAL4 c.-61+24943G>A - intron_variant - 1/10
16-81537760-C-A CMIP c.300+58614C>A - IntronicSNV - 1/20
16-81537760-C-G CMIP c.300+58614C>G - IntronicSNV - 1/20
16-81537760-C-T CMIP c.300+58614C>T - IntronicSNV - 1/20
10-60500970-T-C BICC1 c.307+39067T>C - IntronicSNV - 3/20
3-149194337-C-G TM4SF4 c.264+638C>G - IntronicSNV - 2/4
12-121424406-G-A HNF1A c.327-2230G>A - IntronicSNV - 1/9
19-34218550-C-G CHST8 c.130+38253C>G - IntronicSNV - 3/4
11-84172538-T-C DLG2 c.519+73075A>G - IntronicSNV - 7/27
4-1016707-C-T FGFRL1 c.352+444C>T - IntronicSNV - 3/6
20-44589970-C-T ZNF335 c.1647-449G>A - IntronicSNV - 10/27
22-18451554-G-A MICAL3 c.-75+55493C>T - intron_variant - 1/31
2-192112652-A-G MYO1B c.-10+2300A>G - intron_variant - 1/30
6-158484904-G-C SYNJ2 c.1209G>C p.E403D Missense 9/27 -
6-24472814-G-A GPLD1 c.541C>T p.R181C Missense 7/25 -
6-24450108-G-A GPLD1 c.1355C>T p.S452L Missense 15/25 -
6-24460508-G-A GPLD1 c.1007C>T p.P336L Missense 12/25 -
16-57007296-G-T CETP c.804G>T p.S268= Synonymous 9/16 -
16-57007296-G-A CETP c.804G>A p.S268= Synonymous 9/16 -
8-145730401-G-A GPT c.382G>A p.G128S Missense 4/11 -
16-57007361-T-C CETP c.869T>C p.L290P Missense 9/16 -
8-145730161-C-T GPT c.260C>T p.A87V Missense 3/11 -
17-6380513-C-T PITPNM3 c.921G>A p.E307= Synonymous 9/20 -
15-58855765-G-C LIPC c.1231G>C p.G411R Missense 8/9 -
2-21234303-T-A APOB c.5437A>T p.K1813* Nonsense 26/29 -
8-145730834-C-T GPT c.701C>T p.P234L Missense 5/11 -
19-10334812-T-C S1PR2 c.770A>G p.Y257C Missense 2/2 -
19-37038193-T-A ZNF529 c.1267A>T p.K423* Nonsense 5/5 -
17-7291953-G-T TNK1 c.1706G>T p.G569V Missense 11/13 -
19-11230876-A-G LDLR c.1954A>G p.M652V Missense 13/18 -
11-64112050-C-A CCDC88B c.2037C>A p.A679= Synonymous 14/27 -
11-64112050-C-T CCDC88B c.2037C>T p.A679= Synonymous 14/27 -
12-112158966-T-G ACAD10 c.993-509T>G - IntronicSNV - 7/20
12-121423659-A-G HNF1A c.327-2977A>G - IntronicSNV - 1/9
10-79680514-C-A DLG5 c.304+5461G>T - IntronicSNV - 1/31
8-103662852-T-C KLF10 c.1184-233A>G - IntronicSNV - 3/3
4-110709275-C-T CFI c.57+13796G>A - IntronicSNV - 1/12
11-108436854-A-G EXPH5 c.120-24315T>C - IntronicSNV - 1/5
10-98460581-G-A PIK3AP1 c.430+8743C>T - IntronicSNV - 2/16
6-38108844-C-CG ZFAND3 c.530-11163_530-11163dup - IntronicInsertion - 5/5
7-28183448-T-C JAZF1 c.115+36634A>G - IntronicSNV - 1/4
2-233520254-A-T EFHD1 c.303-7258A>T - IntronicSNV - 1/3
12-112158966-T-C ACAD10 c.993-509T>C - IntronicSNV - 7/20
3-78790555-T-A ROBO1 c.657+5338A>T - IntronicSNV - 5/30
15-39907870-A-C FSIP1 c.1699+2066T>G - IntronicSNV - 11/11
15-39907870-A-G FSIP1 c.1699+2066T>C - IntronicSNV - 11/11
15-39907870-A-T FSIP1 c.1699+2066T>A - IntronicSNV - 11/11
11-93913692-T-A PANX1 c.1202-264T>A - IntronicSNV - 4/4
11-93913692-T-C PANX1 c.1202-264T>C - IntronicSNV - 4/4
16-58764855-C-A GOT2 c.89+3189G>T - IntronicSNV - 1/9
17-73175294-T-C SUMO2 c.153+1858A>G - IntronicSNV - 2/3
4-69973667-C-G UGT2B7 c.1091-154C>G - IntronicSNV - 4/5
12-125584779-C-T AACS c.571-2446C>T - IntronicSNV - 5/17
9-33117965-C-T B4GALT1 c.837-1854G>A - IntronicSNV - 3/5
10-74692646-T-G OIT3 c.*364T>G - 3-UTRSNV 9/9 -
11-63881144-T-A FLRT1 c.1-2596T>A - IntronicSNV - 1/2
11-63881144-T-C FLRT1 c.1-2596T>C - IntronicSNV - 1/2
18-47118923-T-G LIPG c.*2031T>G - 3-UTRSNV 10/10 -
22-21964761-G-A UBE2L3 c.124-385G>A - IntronicSNV - 2/3
1-25779236-T-G TMEM57 c.350-1514T>G - IntronicSNV - 3/10
8-116563879-A-C TRPS1 c.2700+35349T>G - IntronicSNV - 5/6
7-72991592-T-A TBL2 c.130+1158A>T - IntronicSNV - 1/6
7-72991592-T-C TBL2 c.130+1158A>G - IntronicSNV - 1/6
7-21605973-A-G DNAH11 c.1194+1958A>G - IntronicSNV - 6/81
4-69319692-A-G TMPRSS11E c.11+6451A>G - IntronicSNV - 1/9
12-109939641-T-A UBE3B c.1282+302T>A - IntronicSNV - 13/27
6-101308421-T-A ASCC3 c.241+3519A>T - IntronicSNV - 3/41
6-101308421-T-C ASCC3 c.241+3519A>G - IntronicSNV - 3/41
17-65957568-A-G BPTF c.8261+1577A>G - IntronicSNV - 24/27
10-64988931-A-T JMJD1C c.448-9188T>A - IntronicSNV - 3/25
6-24416482-A-C MRS2 c.720-143A>C - IntronicSNV - 6/10
6-24416482-A-G MRS2 c.720-143A>G - IntronicSNV - 6/10
6-24416482-A-T MRS2 c.720-143A>T - IntronicSNV - 6/10
1-21885982-A-G ALPL c.62-1137A>G - IntronicSNV - 2/11
12-125264293-G-A SCARB1 c.*1-1161C>T - intron_variant - 12/12
12-125264293-G-C SCARB1 c.*1-1161C>G - intron_variant - 12/12
1-55520938-G-A PCSK9 c.800-728G>A - IntronicSNV - 5/11
9-107563603-T-C ABCA1 c.4698+732A>G - IntronicSNV - 34/49
1-55676748-C-T USP24 c.324+3715G>A - IntronicSNV - 1/67
2-44069772-G-A ABCG8 c.64-1874G>A - IntronicSNV - 1/12
11-116619605-G-A BUD13 c.1767-314C>T - IntronicSNV - 9/9
19-11336444-C-T DOCK6 c.2955+1569G>A - IntronicSNV - 24/47
19-19458388-A-G MAU2 c.1308+213A>G - IntronicSNV - 13/18
9-107620797-A-G ABCA1 c.720+6T>C - IntronicSNV - 7/49
2-44008987-C-T DYNC2LI1 c.127-1672C>T - IntronicSNV - 2/12
10-95168448-T-C MYOF c.729+96A>G - IntronicSNV - 7/53
9-136149711-A-T ABO c.28+867T>A - IntronicSNV - 1/7
5-156387137-G-C TIMD4 c.58+3015C>G - IntronicSNV - 1/8
7-37142972-G-C ELMO1 c.1192-6640C>G - IntronicSNV - 14/21
6-24480556-G-GT GPLD1 c.154-370_154-370dup - IntronicInsertion - 2/24
1-230300481-C-G GALNT2 c.127-13483C>G - IntronicSNV - 1/15
1-230300481-C-T GALNT2 c.127-13483C>T - IntronicSNV - 1/15
7-21589243-A-C DNAH11 c.495+4476A>C - IntronicSNV - 2/81
7-21589243-A-G DNAH11 c.495+4476A>G - IntronicSNV - 2/81
9-19631061-T-A SLC24A2 c.931-8764A>T - IntronicSNV - 2/10
11-126250680-G-T ST3GAL4 c.-61+24943G>T - intron_variant - 1/10
7-28053777-T-C JAZF1 c.116-22177A>G - IntronicSNV - 1/4
11-63843031-C-T FLRT1 c.-1037-27635C>T - intron_variant - 1/2
11-62301396-T-C AHNAK c.493A>G p.T165A Missense 5/5 -
9-6610328-C-T GLDC c.499G>A p.E167K Missense 4/25 -
22-44342236-AGT-TGA PNPLA3 c.1420_1422delAGTinsTGA p.S474* Nonsense 9/9 -
19-58639918-T-C ZNF329 c.953A>G p.N318S Missense 4/4 -
15-58838103-A-ACG LIPC c.738_739dup p.G247Afs*12 Frameshift 5/9 -
6-160555041-G-T SLC22A1 c.723G>T p.Q241H Missense 4/11 -
6-160555041-G-C SLC22A1 c.723G>C p.Q241H Missense 4/11 -
6-24450123-G-T GPLD1 c.1340C>A p.S447* Nonsense 15/25 -
6-24450123-G-C GPLD1 c.1340C>G p.S447* Nonsense 15/25 -
2-21265267-G-T APOB c.203C>A p.A68D Missense 3/29 -